Dra. Gemma Vilahur, researcher of the “Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau”, has been awarded at the European Society of Cardiology (ESC) Congress in Paris by the Council for Basic Cardiovascular Science (CBCS) with the Outstanding Achievement Award in recognition of her outstanding achievements during the early stages of her career “
The group Genomic Instability and DNA Repair of the IIB Sant Pau, coordinated by Dr. Jordi Surrallés, director of the Genetic Service of the Hospital de Sant Pau, participates in a clinical trial of gene therapy whose results have been published in the prestigious journal Nature Medicine. The participation of this research group has focused on leading the genetic studies necessary for the recruitment and follow-up of the patients participating in the clinical trial.
The multinational team of researchers has used genetically modified viruses as a vehicle to introduce a gene into stem cells extracted from the blood of patients affected by a serious genetic disease, Fanconi’s anemia, characterized by high chromosomic fragility.
Genetically-corrected cells have been re-introduced to patients as if it were a self-transplant but without danger of rejection, or risk of causing graft disease against the host and without using conditioning chemotherapy. Unlike conventional transplants with healthy stem cells that may involve months of hospitalization in sterile chambers, patients in this clinical trial have required only 2-3 days of hospitalization.
The team of Dr. Surrallés, has been responsible for diagnosing genetically the patients who have entered the clinical trial, using chromosomal techniques to determine their chromosomal fragility, and mass-sequencing techniques of new generation of exons to determine the mutated gene and specific mutation of each patient. Only patients with mutations in the FANCA gene have been recruited in this trial.
The researchers have been able to see how genetically corrected cells are able to repopulate the marrow, cause a decrease in chromosomal fragility and stop the progression of anemia in different patients.
Reference article
Successful Engraftment of Gene Corrected Hematopoietic Stem Cells in Non-conditioned Fanconi Anemia Patients. Paula Río et al. Nature Medicine. 9th Sept. 2019. DOI: 10.1038/s41591-019-0550-z
The Catalan Agency for Healthcare Quality and Evaluation (Aqua), an entity attached to the Department of Health of the Generalitat of Catalonia, has made public the final decision on the granting of subsidies for the PERIS 2018 call for proposals. Rodrigo Álvarez Velasco, Gemma Berga Congost , Francisco Javier de Diego Adelina and Javier Pagonabarraga Mora, all researchers from the Sant Pau Research Institute, have been selected to receive different grants in this call.
Granted by PHD for Medical Doctors (PhD4MD), IIB-Sant Pau
Rodrigo Álvarez Velasco, Neuromuscular Disease Research Group.
Grants granted for intensifying the research activity of health professionals with IIB Sant Pau training
Dr. Francisco Javier De Diego Adelina, Clinical Psychiatry Research Group.
Dr. Javier Pagonabarraga Mora, Research Group on Parkinson’s Disease and Movement Disorders.
Grants awarded for intensification of research activity in nursing and physiotherapy – IIB Sant Pau
Gemma Berga Congost, Care Research Group.
The American Association for Frontotemporal Dementia (AFTD) has awarded Dr. Oriol Dols-Icardo, a research member of the Genetics in Neurodegenerative Diseases Group at the IIB Sant Pau, a two-year postdoctoral fellowship to investigate the genetic basis of this disease.
Dr. Eugenia Mato and Dr. Juan Carlos Escolà-Gil, both researchers at the IIB Sant Pau, lead a micro-patronage project with the final objective of generating an experimental model of poor prognosis thyroid epithelial cancer to test new therapeutic strategies.
All proceeds from this campaign will be used to complete in vitro studies in human cell models. In this link you will find the summary of the research project: https://www.precipita.es/proyecto/colesterol-y-cancer-de-tiroides.html
Collaborate with the project: https://ciencia.precipita.es/tiroides
Five research groups at the IIB Sant Pau participate in the micro-patronage project: the Endocrinology, Diabetes and Nutrition Group, the Metabolic Basis of Cardiovascular Risk Group, the General and Digestive Surgery Group, the Oncology Clinical Research Group and the Molecular Pathology of Cancer Group. The scientists of San Pablo want to give continuity to the research project they started four years ago and which has recently been published in the prestigious journal Scientific Reports, which demonstrates the role of cholesterol and one of its main metabolites, 27-hydroxycolesterol (27HC) in the growth of the thyroid tumour, as well as in its aggressiveness. This micro-patronage project is launched thanks to the support of the PRECIPITA platform of the Spanish Foundation for Science and Technology (FECYT), which aims to create meeting points between researchers, society and people interested in science.
Reference article: “Cholesterol and 27-hydroxycholesterol promote Thyroid carcinoma aggressiveness”. Giovanna Revilla, Monica de Pablo Pons, Lucía Baila-Rueda, Annabel García-León, David Santos, Ana Cenarro, Marcelo Magalhaes, RM Blanco, Antonio Moral, José Ignacio Pérez, Gerard Sabé, Cintia González, Victoria Fuste, Enrique Lerma, Manuel dos Santos Faria, Alberto de Leiva, Rosa Corcoy, Juan Carlos Escolà-Gil & Eugenia Mato. Scientific Reports 2019
Researchers at Sant Pau i del IMIM have discovered a new biomarker, the sLRP1 receptor, which predicts the risk of developing cardiovascular disease in people who currently have no symptoms. This biomarker provides novel and complementary information to what is already known today.
Cardiovascular diseases continue to be the main cause of death in Spain. In addition, it is estimated that every year some 125,000 people present with an acute myocardial infarction. For this reason, researchers are working to identify some blood parameters (biomarkers) to identify people most at risk of these diseases.
The study, recently published in the journal Atherosclerosis, and led by Dr. Vicenta Llorente Cortés and Dr. David de Gonzalo of the Sant Pau Biomedical Research Institute (IIB-Sant Pau) and the IIBB-CSIC, and Dr. Roberto Elosua and Dr. Jaume Marrugat of the Institut Hospital del Mar d’Investigacions Mèdiques (IMIM), all members of the cardiovascular disease cybercv.
The sLRP1 is a biomarker that plays an important role in the onset and progression of atherosclerosis, which is the mechanism that explains the most serious diseases of the heart. Previous studies by the IIB-Sant Pau Lipids and Cardiovascular Pathology research group had already indicated that sLRP1 was associated with an acceleration of the atherosclerosis process, with a greater accumulation of cholesterol and inflammation in the wall of the arteries, but this is the first evidence that also predicts the appearance of clinical events such as myocardial infarction. “The question we wanted to answer was whether the determination of a new blood biomarker (sLRP1) could predict cardiovascular risk at 10 years,” explains Dr. de Gonzalo.
As Dr. Llorente Cortés points out, “this discovery confirms the relevance and applicability of sLRP1 in clinical practice to predict well in advance the risk of developing cardiovascular disease in people who currently have no symptoms”.
Dr. Elosua indicates that “for each increase in one unit of sLRP1 the risk of presenting with heart disease increases by 40%”. In addition, as Dr. Marrugat points out, “this increase is independent of other risk factors such as cholesterol, tobacco, high blood pressure and diabetes. So this biomarker provides novel and complementary information to what we already know today.
The study was carried out within the framework of the REGICOR study (Registre Gironí del Cor) which has been following for more than 15 years more than 11,000 people in the province of Girona.
This project is financed with grants from the Strategic Plan for Research and Innovation in Health (PERIS, SLT002/16/00088) of the Generalitat de Catalunya, the Fundació La Marató TV3 and the CIBER Cardiovascular Diseases of the Instituto de Salud Carlos III.
Reference article
de Gonzalo-Calvo D, Elosua R, Vea A, Subirana I, Sayols-Baixeras S, Marrugat J, Llorente-Cortés V. Soluble low-density lipoprotein receptor-related protein 1 as a biomarker of coronary risk: Predictive capacity and association with clinical events. Atherosclerosis. 2019 Jun 16;287:93-99. doi: 10.1016/j.atherosclerosis.2019.06.904. [Epub ahead of print] PubMed PMID:31247347.
Within the seminar cycle of IIB Sant Pau, this fall the lectures will be given by Prof. Charlotte Cordonnier, Dr. Javier Bermejo, Dr. Analia Bortolozzi, and Prof. Laurent Duca.
From September 30 to October 10 will take place the second edition of “Theoretical-practical course of Training in cell culture. Theory and techniques “, organized by the Microbiology Service of Sant Pau. A tutored, eminently practical learning, so that the student acquires an experience in the manipulation of cell cultures that allows him to reinstate the techniques in his laboratory. A course aimed at technicians with a bachelor’s degree, graduates in Health Sciences or Biosciences. Attached you will find the information of this second edition.
The Association CADASIL España recently made a donation of 5,500 euros to the Research Group of pharmacogenomics and neurovascular genetics of the IIB Sant Pau, led by Dr. Israel Fernández Cadenas.
CADASIL is a hereditary disease caused by a mutation in the NOTCH3 gene. Its characteristic symptoms are migraine, psychiatric disorders such as anxiety or depression, stroke and dementia at an early age, dealing with the most frequent cause of hereditary vascular dementia. The Research Group of the IIB Sant Pau collaborates with the association through its research and giving visibility to CADASIL’s disease.
You can visit the informative website about the disease: www.cadasil.es
Researchers at the Research Institute of Sant Pau (IIB Sant Pau) and CIBER, led by Eugenia Mato of the Endocrinology, Diabetes and Nutrition Research Group and Joan Carles Escolà-Gil of the Risk Metabolic Basis Research Group Cardiovascular, have shown the role of cholesterol and one of its main metabolites, 27-hydroxycholesterol (27HC) in the growth of the thyroid tumor, as well as in its aggressiveness. The work has been published in Scientific Report.
Research shows that tumor human cells develop more rapidly in cholesterol-containing cultures than in their absence, due to their subsequent 27 HC transformation in the interior of the tumor cell. Studies were corroborated in human thyroid epithelial cancer tissues, where a direct association was found between the tumor aggressiveness and a reduction in the main enzyme that eliminated the 27HC molecule, the CYP7B1.
The work, published in Scientific Reports, shows that 27H promotes the growth and spread of the most common types of thyroid cancer. The authors, who belong to CIBER and the Research Institute of Sant Pau, claim that “Thyroid cancer tumors, because they present a reduction in the enzyme to eliminate 27HC, are generating a molecule that promotes the growth of the tumor “.
“Reducing cholesterol through changes in dietary or drug habits could reduce the risk of thyroid cancer,” says Giovanna Revilla, the first signatory of the work and researcher who conducts her doctoral thesis at the Research Institute of Sant Pau. In addition, “a drug that activates the CYP7B1 enzyme could help prevent or, at least, treat this disease,” he adds.
The researchers that led this study belong to the CIBER of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN) and the CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM). Researchers Rosa Corcoy, Cintia González and Alberto de Leiva from the Research Group of Endocrinology, Diabetes and Nutrition of the IIB Sant Pau and members of the Endocrinology Service of the Hospital de la Santa Creu i Sant Pao have also participated. Sant Pau and the CIBER-BBN; Enrique Lerma and Victoria Fuste of the Pathological Anatomy Service of the same Hospital; Antonio Moral and José Ignacio Pérez of the General and Digestive Surgery Service of Sant Pau; Mònica de Pablo Pons, Annabel García-León, David Santos, Gerard Sabé and RMª Blanco of the Research Institute of Sant Pau; Lucia Balla-Rueda and Ana Cenarro from CIBERCV and the Institute of Health Research Aragón; and Marcelo Magalhaes and Manuel dos Santos Faria from the Hospital of the Federal University of Maranhão in Brazil.
Reference article:
“Cholesterol and 27-hydroxycholesterol promote thyroid carcinoma aggressiveness“. Giovanna Revilla, Monica de Pablo Pons, Lucía Baila-Rueda, Annabel García-León, David Santos, Ana Cenarro, Marcelo Magalhaes, RM Blanco, Antonio Moral, José Ignacio Pérez, Gerard Sabé, Cintia González, Victoria Fuste, Enrique Lerma, Manuel dos Santos Faria, Alberto de Leiva, Rosa Corcoy, Joan Carles Escolà-Gil & Eugenia Mato. Scientific Reports 2019
The Dra. Gemma Arderiu, from the Research Group on Molecular and therapeutic pathology of atherothrombotic and ischemic diseases of the Research Institute of Sant Pau, is the first signer of the article: MicroRNA-145 Regulates the Differentiation of Adipose Stem Cells Toward Microvascular Endothelial Cells and Promotes Angiogenesis.
The work, which shows that the differentiation of mesenchymal cells derived from adipose tissue into endothelial cells has beneficial effects on the formation and stabilization of neo-blood vessels, favoring post-ischemic neovascularization and tissue re-infusion, has It has been recently published in the prestigious Circulation Research magazine.
Having specific biomarkers that help improve decision-making and develop new therapeutic strategies in case of coronary heart disease is key, and in this line researchers from the CIBER of Cardiovascular Diseases (CIBERCV) have fostered a study that explores the diagnostic capacity of circulating microRNAs in patients suspected of stable coronary heart disease.
The researchers David de Gonzalo Calvo and Vicenta Llorente Cortés – from the group of Lipids and Cardiovascular Pathology – and Francesc Carreras Costa – from the Clinical and Translational Cardiology group – both from the CIBERCV of the Sant Pau Biomedical Research Institute (IIB Sant Pau) and the Biomedical Research Institute of Barcelona (IIBB-CSIC) have published this study in the prestigious Journal of Internal Medicine. A study that is based on an approach to the actual clinical practice in which the potential of circulating microRNA as biomarkers of stable coronary heart disease in certain groups of patients is revealed.
A fundamental role in physiological and pathological processes
MicroRNAs are small non-coding RNAs involved in gene regulation and play a fundamental role in physiological and pathological processes, finding not only the cellular interior, but also in body fluids such as blood, so they are key as non-biomarkers Invasive for diagnosis, prognosis and even therapeutic evaluation of diseases. Thanks to this research, the plasma levels of a 10 microRNA panel previously described by CIBERCV researchers as indicators of coronary atherosclerosis have been analyzed in patients suspected of stable coronary heart disease evaluated in the Cardiac Imaging Unit of the Hospital of the Holy Cross and Saint Paul.
According to David de Gonzalo, “our study highlights the potential of circulating microRNAs as biomarkers of stable coronary heart disease, and in this particular case, the results suggest that they are useful biomarkers in certain subgroups of patients.”
In this way, it seems that the utility of microRNA is superior in subject-specific phenotypes, so that “our work supports the incorporation of new molecular indicators in clinical decision making, thereby facilitating medical attention personalized “, says researcher David de Gonzalo.
In this work, researchers collected plasma samples from 200 patients sent for coronary angiography classified according to their severity, analyzing a panel of 10 microRNAs previously associated with stable coronary heart disease. After a comprehensive adjustment that included cardiovascular risk factors, drug use and protein-based biomarkers, several circulating microRNAs were reversedly associated with the extent and severity of atherosclerosis. The detailed analysis as biomarkers suggested the poor diagnostic capacity of the microRNA in terms of discrimination, evaluated both separately and in combination with clinical history, in the entire population. However, its inclusion in decision trees generated models that improved the classification of cases and controls in certain subgroups of patients.
Reference article:
De Gonzalo-Calvo, Vilades, Martínez-Camblor, Vea, Nasarre, Sanchez Vega, Leta, Carreras, Llorente-Cortés. Circulating microRNAs in suspected stable coronary artery disease: A coronary computed tomography angiography study DOI: 10.1111/joim.12921
Researchers from the group Brain Cognition and Plasticity of the Biomedical Research Institute of Bellvitge (IDIBELL) and the Institute of Neurosciences of the University of Barcelona (UB), with the collaboration of Radboud University in the Netherlands , have identified two specific patterns of cerebral disorders underlying two clinical profiles of Huntington’s disease. The study, published in Neuroimage: Clinical, can help develop specific biomarkers and personalized treatments for each profile of this minority illness. The study also involved different hospitals in Barcelona, such as Sant Pau, Bellvitge, Clínic and Mare de Déu de la Mercè, which allowed researchers to investigate with a sample of large patients, a fact of special importance in a minority illness such as Huntington’s disease.
The research, led by doctors Estela Cámara and Ruth de Diego and with the predoctoral researcher Clara García Gorro as the first author, broadens the knowledge about Huntington’s disease. This neurodegenerative genetic disease is characterized by generating motor, cognitive and psychiatric deficits, but there is “a very large symptomatic heterogeneity among patients, so we decided to investigate the neurobiological bases of these differences to see if we could link them to the clinical profiles, “explains the doctor of Diego, researcher ICREA.
For the study, the researchers used a technique of multimodal fusion analysis that allows to combine different types of modalities of images by magnetic resonance. “This type of analysis allows us to integrate the information of the different modalities and thus study the brain and the pattern of neurodegeneration in a more global way, which makes it possible to identify more subtle cerebral alterations,” explains Dr. Camara.
The analysis of the relationship between the symptoms of the disease and the measures of the structural alterations of the white and gray matter allowed the researchers to establish that the cognitive and motor symptoms shared a common neurobiological basis while the psychiatric domain had a signature differentiated neural
“Cognitive and motor symptoms were associated together with a gray matter reduction pattern, the cortical thickness and the integrity of the white substance in brain regions responsible for the execution of movements and the processing of different cognitive functions, such as memory, planning or visual-spatial processing. Depressive symptoms, on the other hand, were associated with a very different pattern, characterized by a lower thickness in the cerebral cortex in regions responsible for the emotional processing typically associated with alterations psychiatric, “adds Dr. García Cap.
These results provide a new vision of a disease traditionally considered as a uniform entity, and promote new lines of research that take into account these individual qualitative differences. “Our results are especially relevant in the context of clinical trials, as they could be used to define specific biomarkers for each symptomatological profile, even before clinical signs appear,” says Dr. Cámara, adding that “in addition In addition, we are opening a door to personalized medicine in Huntington’s disease, as it increases the likelihood of finding individualized treatments aimed at specific cognitive, motor, and psychiatric disorders. ”
Article reference
Garcia-Gorro C, Llera A, Martinez-Horta S, et al. (2019) Specific patterns of brain alterations underlie distinct clinical profiles in Huntington’s disease. NeuroImage: Clinical. In Press, Accepted Manuscript, Available online 15 June 2019.
Dr. Josep Julve, from the research group Cardiovascular Risk Metabolic Bases, from the Research Institute of Sant Pau, explained the project funded by La Marató de TV3 in which he is working on a group of interested citizens.
“Diabetic cardiomyopathy” is a common cause of heart failure in diabetic patients. Currently, specific biomarkers are not available to make their diagnosis precocious or to predict their clinical evolution. The objectives of the study, funded by the Fundación La Marató de TV3, are to study the contribution of LDL lipoproteins modified in the pathogenesis of this cardiomyopathy in experimental models and identify circulating biomarkers of the lipid metabolism, related to the accumulation of fat In the heart and heart function disorders, which can be used for early diagnosis and the clinical prognosis of this cardiomyopathy in patients.
This project is part of a joint initiative between researchers from the Research Institute of the Sant Pau Hospital (Dr. Josep Julve) and the Institute for Research in Health Sciences Germans Trias i Pujol (Dr. Núria Alonso).
The Oncogenesis and Antitumor Research Group, from the Research Institute of the Hospital de Sant Pau-IIB Sant Pau, led by Dr. Ramon Mangues, has developed the first nanometric-sized drug that is selectively antimetastatic. This new drug has been tested in animals and the results are encouraging: it prevents metastasis and also induces the death of those that are already underway. This research needs to be completed with other funds to make the clinic a reality.
Current chemotherapy affects both tumor cells and healthy cells. On the other hand, the new nanomedicine drug does not cause toxicity because it behaves like a drone: it scans the cells of the organism in search of its objective and only eliminates the malignant ones; the healthy ones leave undamaged. In addition, much of the medication accumulates in the tumor, which can prevent many of the side effects of conventional chemotherapy.
The precision of the new treatment is possible thanks to the use of a nanoconjugate, made up of protein nanoparticles coupled with a very powerful chemotherapeutic drug, that manages the direction and the selective delivery of the medication. In particular, it is directed solely to the CXCR4 membrane receptor, which is overexpressed in the membrane of the metastatic stem cells, that is, those that have the ability to initiate and maintain metastasis. In this way, it is achieved to selectively eliminate the cells responsible for the start and maintenance of metastasis.
The new drug has been tested in a murine model of colorectal cancer with metastasis in the lungs, liver, peritoneum and lymph nodes. It has also worked in animals with leukemia, lymphoma and endometrial cancer.
In a couple of years, researchers are confident that they can try it in humans and expect them to have a high impact on cancer treatment, because current therapies offer very limited metastasis control and are associated with severe adverse effects. In addition, they believe that nanoconjugate could be useful in more than 20 types of cancers.
Public and private funds to start a Phase I Clinical Trial
To be able to launch this Phase I study (in people), the researchers have founded the spinf-off Nanoligent, a company created with technology developed in collaboration between the Research Institute of the Sant Pau-IIB Sant Hospital Pau and the Autonomous University of Barcelona, through Professor Antonio Villaverde and Dr. Esther Vázquez, with the involvement of CIBER-BBN and the ICTS Nanbiosis. They have also achieved a Challenges project from the Ministry of Economy and Business.
The Spanish Society of Medical Oncology (SEOM) estimates that in 2035 there will be 315,000 new cases of cancer per year. There are currently no drugs in the market that selectively eliminate metastasis, and metastatic dissemination is responsible for most deaths in oncology patients.
The group has been supported by the IIB Sant Pau Transfer and Innovation Unit that is a member of the Platform for the Innovation in Medical and Health Technologies of the Instituto de Salud Carlos III, ITEMAS.
See vídeo
Today, June 14, the Friends of Sant Pau have visited the new facilities of the Research building accompanied by their director, Dr. Jaume Kulisevsky, who made the presentation and explanation of the characteristics of the building and how the research groups will do research at the Institute.
Dr. Mar Gomis, from the Pharmacy Service of the Sant Pau Hospital, will present the mHeart project, a multidisciplinary tracking system for chronic polymedicated patients with the support of Mobile Health (mHealth), on 19 June at 9 a.m. in the Assembly Hall of the Sant Pau Research Institute. The event will feature an introduction by Dr. M. Antonia Mangues, director of the Pharmacy Service of Sant Pau.
Places are limited in order of registration: iibsantpau@santpau.cat
The event can be followed live via the link
Dr. Alberto Lleó, director of the Memory Unit of the Sant Pau Neurology Service and head of the research group Neurobiologia de les Demències de l’IIB Sant Pau, will be one of the 4 researchers participating in the scientific effort organised by La Marató de TV3. On June 12th, at 11 o’clock, at the Institut d’Estudis Catalans, it will be possible to meet directly from the researchers the results of 4 research projects that this solidary initiative has promoted. Lluís Bernabé, director of the Fundació La Marató de TV3, will present the report on the occasion of the 20th Symposium, which will bring together researchers from different pathologies that have been overfunded by the 2013 edition of La Marató. Among them, Dr. Javier Pagonabarraga, neurologist of the Parkinson’s and Neurological Movement Disorders Unit of the Sant Pau Neurology Service and researcher at the Sant Pau Research Institute.
Dr. Lleó will speak during the :
The detection, in the liquid cerebrospinal fluid, of the proteins that form the synapse can serve to diagnose early Alzheimer’s disease.
The result of this research has led to an application for a patent and at the present time is working on the development of assistive devices that allow this protein to be measured in the cerebrospinal fluid and blood in a larger number of people to demonstrate the clinical application in more detail.
Consult the Symposium programme
The IIB Sant Pau en collaboration with the Research Group on Perinatal and Women’s Medicine, led by Dr. Elisa Llurba, organizes the seminar “Air Pollution a mayor threat for health beyond the cardio-respiratory system” by Professor Jordi Sunyer, head of the Childhood and Environment Programme of ISGlobal. Sunyer is an outstanding researcher who has revolutionised the concept of environmental pollution and health. The appointment is next Wednesday 12 June at 15 hours in the multipurpose rooms of the Hospital.
SYNGO, a collaboration that brings together 15 laboratories from around the world, including the Molecular Physiology of Synapses, directed by Dr. Àlex Bayés of the IIB Sant Pau and the Gene Ontology Consortium (GO), has published SYNGO 1.0, the first version of a knowledge base that aims to collect the current knowledge of the neuroscientific community on the genetic architecture of synapses. The launch of SYNGO 1.0 is supported by the first scientific publication of the journal Neuron.
Using structured frameworks called ontologies, SYNGO has published nearly 3,000 descriptions of more than 1,100 unique synaptic genes, compiling published experimental information on the location and/or function of its protein products. SYNGO is fully integrated into the GO knowledge base (http://geneontology.org), the world’s largest source of information on gene functions.
Synapses, which serve as specialized contacts between nerve cells, are the fundamental units of brain information processing. The loss of coordinated activity in synapses is at the root of many brain disorders called synaptopaties. Examples include Alzheimer’s, Parkinson’s, schizophrenia, many autism spectrum disorders, or intellectual disability.
Publication in Neuron
Consortium members have used SYNGO 1.0 to demonstrate that synaptic genes have changed little throughout evolution and are functionally much more sensitive (i.e., less tolerant) to mutations than other genes expressed in the brain. In addition, the authors also demonstrate that variations in many synaptic genes are significantly associated with intelligence, educational attainment, ADHD, autism, and bipolar disorder. Synaptic genes are also much more likely than other genes expressed by the brain to support mutations associated with neuropsychiatric disorders.
* You can consult the article
SYNGO Consortium
The SYNGO Consortium was created in 2015 by Steven Hyman and Guoping Feng of the Stanley Centre for Psychiatric Research at the Broad Institute of MIY in Cambridge (MA) and coordinated by Guus Smit and Matthijs Verhage of the Center for Neurogenomics and Cognitive Research (CNCR) at VU University, Amsterdam, the Netherlands and, for the GO Consortium, Paul Thomas at the University of Southern California.
The transmission of signals from one nerve cell to another is orchestrated by a large collection of proteins located on the surfaces of neurons on both sides of a synapse, probably encoded by a few thousand genes. Decades of research have provided parts lists for different types of synapses, as well as many clues to how these proteins work together to boost synaptic functions. However, in the neuroscience community there has been no framework or model to represent and describe this information. The SYNGO Consortium met to synthesize the available knowledge and begin to fill this gap.
As a public knowledge base for synapse research, SYNGO provides
– A standard framework of definitions (an ontology) to describe the functions, locations and relationships of proteins and genes in the context of synapses.
– Literature-based, expertly based annotations linking synaptic genes and proteins to specific terms.
– Online visualization and analysis tools to evaluate the locations and functions of individual synaptic genes or for enrichment studies.
